A rising titan: TTN review and mutation update

Human Mutation

Volumn 35, Issue 9, 2014, Pages 1046-1059

  Chauveau, Claire ^a,b,c   Rowell, John ^a,b,c   Ferreiro, Ana ^a,b,c  

^a PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^b SORBONNE UNIVERSITÉ   (France)

^c Groupe Hospitalier Pitié Salpêtrière   (France)

Author keywords

Genotype phenotype correlation; Titin; Titinopathies; TTN

Indexed keywords

CONNECTIN; ISOPROTEIN; ZINC FINGER PROTEIN; TTN PROTEIN, HUMAN;

ALTERNATIVE RNA SPLICING; AMINO TERMINAL SEQUENCE; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; BIOLOGICAL ACTIVITY; CHROMOSOME CONDENSATION; CONFORMATIONAL TRANSITION; DNA SEQUENCE; FRAMESHIFT MUTATION; FRUIT FLY MODEL; GENE MUTATION; GENE SEQUENCE; GENETIC ASSOCIATION; GENETIC CODE; GENETIC VARIABILITY; GENOTYPE PHENOTYPE CORRELATION; HEART MUSCLE; HETEROZYGOSITY; HUMAN; MAJOR GENE; MISSENSE MUTATION; MOUSE MODEL; MYOPATHY; NONHUMAN; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PROTEIN CONFORMATION; PROTEIN DEGRADATION; PROTEIN FOLDING; PROTEIN FUNCTION; PROTEIN STRUCTURE; TETRATRICOPEPTIDE REPEAT; ANIMAL; CHEMISTRY; DISEASE MODEL; GENETICS; INHERITANCE; METABOLISM; MUTATION; POPULATION GENETICS; STRUCTURE ACTIVITY RELATION;

ALTERNATIVE SPLICING; ANIMALS; CONNECTIN; DISEASE MODELS, ANIMAL; GENETIC ASSOCIATION STUDIES; GENETIC VARIATION; GENETICS, POPULATION; HUMANS; INHERITANCE PATTERNS; MUTATION; PROTEIN ISOFORMS; STRUCTURE-ACTIVITY RELATIONSHIP;

EID: 84906061711     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.22611     Document Type: Article

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